KERA, keratocan, 11081

N. diseases: 27; N. variants: 9
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1857574
Disease: CORNEA PLANA 2
CORNEA PLANA 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 8 0.950 None 0.875 8 8 2000 2016
CUI: C1852557
Disease: CORNEA PLANA 1
CORNEA PLANA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 2 0.210 None 0.667 3 2003 2007
CUI: C0344529
Disease: Cornea plana
Cornea plana
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 22 2 0.200 None 1.000 12 2 1995 2019
Congenital malformation of cornea NOS
disease Congenital Abnormality 1 0.200 None 1.000 2 2003 2007
Irido-corneo-trabecular dysgenesis (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 0.200 None 1.000 2 2003 2007
Other congenital corneal malformations
disease Congenital Abnormality 1 0.200 None 1.000 2 2003 2007
CUI: C0266544
Disease: Microcornea
Microcornea
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.200 None 1.000 2 2003 2007
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1096274
Disease: Corneal thinning
Corneal thinning
disease Disease or Syndrome 6 0.100 None 0
CUI: C0003742
Disease: Arcus Senilis
Arcus Senilis
disease Eye Diseases Disease or Syndrome 13 23 0.100 None 0
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease Eye Diseases Disease or Syndrome 142 29 0.100 None 0
CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 4 0.030 None 1.000 3 2010 2018
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.020 None 1.000 2 2006 2011
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2014 2014
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2014 2014
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None 1.000 1 2018 2018
CUI: C1720452
Disease: Soft drusen
Soft drusen
disease Disease or Syndrome 10 5 0.010 None 1.000 1 2018 2018
CUI: C1260959
Disease: Drusen
Drusen
disease Disease or Syndrome 57 18 0.010 None < 0.001 1 2018 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2004 2004
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None < 0.001 1 2006 2006
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 1 2016 2016
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2016 2016
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 194 269 0.010 None < 0.001 1 2018 2018
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.010 None 1.000 1 2001 2001